chr9-133341510-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_133640.5(MED22):c.598G>A(p.Ala200Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000596 in 1,510,652 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_133640.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MED22 | NM_133640.5 | c.598G>A | p.Ala200Thr | missense_variant | Exon 5 of 5 | ENST00000343730.10 | NP_598395.1 | |
MED22 | NM_181491.3 | c.*2605G>A | 3_prime_UTR_variant | Exon 4 of 4 | NP_852468.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MED22 | ENST00000343730.10 | c.598G>A | p.Ala200Thr | missense_variant | Exon 5 of 5 | 1 | NM_133640.5 | ENSP00000342343.5 | ||
MED22 | ENST00000610888 | c.*2605G>A | 3_prime_UTR_variant | Exon 4 of 4 | 1 | ENSP00000478773.1 | ||||
MED22 | ENST00000614493 | c.*2605G>A | 3_prime_UTR_variant | Exon 4 of 4 | 2 | ENSP00000481493.1 | ||||
MED22 | ENST00000610672.4 | c.598G>A | p.Ala200Thr | missense_variant | Exon 5 of 5 | 2 | ENSP00000482438.1 |
Frequencies
GnomAD3 genomes AF: 0.0000657 AC: 10AN: 152208Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000541 AC: 9AN: 166434Hom.: 0 AF XY: 0.0000539 AC XY: 5AN XY: 92736
GnomAD4 exome AF: 0.0000589 AC: 80AN: 1358444Hom.: 0 Cov.: 29 AF XY: 0.0000611 AC XY: 41AN XY: 671316
GnomAD4 genome AF: 0.0000657 AC: 10AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74350
ClinVar
Submissions by phenotype
not specified Benign:1
This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at